🧵 1/9 Delighted to announce that #DeepRVAT is out today in Nature Genetics! Here's a recap of our tweetorial from the preprint, with updates for some exciting new results. It's been a joy to work with Eva Holtkamp, as well as gagneurlab and Oliver Stegle.

Thrilled to share a new preprint on the role of RNU4-2 and RNU5B-1 variants in neurodevelopmental disorders, now online in MedRxiv. 1/12 🧵medrxiv.org/content/10.110…

An impressive description of 133 probands with ReNU syndrome, collected just over several weeks through the highly organized network of French geneticists (including several from AP-HM - Hôpitaux Universitaires de Marseille) – a great example of the power of collaboration for the benefit of rare disease patients!

This year’s World Muscle Society meeting is in Prague #WMS2024, starting today! I’ll be presenting the updated gene lists used nationwide in France to diagnose muscle disorders, established by the French National Network for Rare Neuromuscular Diseases – FILNEMUS (487P Session2)

#WMS2024 Gisele Bonne moderating a session and short talk from Dr Gorka Fernández presenting his work and poster about digenic myopathy at World Muscle Society congress.

We are excited to announce the new CADD v1.7 and ClinGen CSpec tracks for GRCh37/hg19 and GRCh38/hg38 genomes. More information is available at genome.ucsc.edu/goldenPath/new….

#WMS2024 Congratulations to our winners Piera Smeriglio Béatrice Labella & Dr Gorka Fernández for their Elsevier prizes for oral presentations at World Muscle Society congress! 👏👏👏 Centre of Research in Myology (UMRS 974) Biotherapies_Inst

A great guide to gene-disease relationships in genomics era by Prof Zornitza Stark et al rdcu.be/dXUt9

I'm moving to Bluesky, see you there @sgorokhova.bsky.social